Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 35-42

  Choi, B O ^a   Park, M H ^b   Chung, K W ^c   Woo, H M ^b   Koo, H ^a   Chung, H K ^a   Choi, K G ^a   Park, K D ^a   Lee, H J ^c   Hyun, Y S ^c   Koo, S K ^b  

^a Ewha Womans University School of Medicine   (South Korea)

^b Korea National Institute of Health   (South Korea)

^c Kongju National University   (South Korea)

Author keywords

BSCL2; Charcot Marie Tooth; Exome sequencing; Histopathology; Linkage analysis; Mutation

Indexed keywords

ARTICLE; BERARDINELLI SEIP CONGENITAL LIPODYSTROPHY 2 GENE; CHROMOSOME 11P; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IGHMBP2 GENE; MALE; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MYELINATED NERVE; NERVE BIOPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SURAL NERVE; THENAR;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LINKAGE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; REPUBLIC OF KOREA; SERINE; TRYPTOPHAN; YOUNG ADULT;

EID: 84873705413     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0346-5     Document Type: Article

References (24)

1. Choi M, Scholl UI, Ji W et al (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106:19096-19101
2. Ng SB, Buckingham KJ, Lee C et al (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30-35
3. Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for mendelian disease gene discovery. Nat Rev Genet 12:745-755
4. Choi BO, Koo SK, Park MH et al (2012) Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat 33(11):1610-1615
5. Reilly MM, Shy ME (2009) Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80:1304-1314
6. Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8:654-667
7. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280
8. Auer-Grumbach M, Loscher WN, Wagner K et al (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. Brain 123:1612-1623
9. Bernard R, De Sandre-Giovannoli A, Delague V et al (2006) Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neruomol Med 8:87-106
10. Kleopa KA, Scherer SS (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neruomol Med 8:107-122
11. Züchner S, Vance JM (2006) Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neruomol Med 8:63-74
12. Ito D, Suzuki N (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132:8-15
13. Irobi J, Van den Bergh P, Merlini L et al (2004) The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 127:2124-2130
14. Rohkamm B, Reilly MM, Lochmüller H et al (2007) Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci 263:100-106
15. Cho HJ, Sung DH, Ki CS (2007) Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy. Muscle Nerve 36:384-386
16. Dierick I, Baets J, Irobi J et al (2008) Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype phenotype correlation study. Brain 131:1217-1227
17. Chen B, Zheng R, Luan X et al (2009) Clinical and pathological study of distal motor neuropathy with N88S mutation in BSCL2. Neuropathology 29:543-547
18. Luigetti M, Fabrizi GM, Madia F et al (2010) Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. Muscle Nerve 42:448-451
19. Choi BO, Lee MS, Shin SH et al (2004) Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 24:185-186
20. Lupski JR, Reid JG, Gonzaga-Jauregui C et al (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181-1191
21. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
22. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164
23. Hong D, Park SS, Ju YS et al (2011) TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology. Nucleic Acids Res 39(Database issue):D883-D888
24. Lim S, Jang HC, Lee HK et al (2006) A rural-urban comparison of the characteristics of the metabolic syndrome by gender in Korea: the Korean Health and Genome Study (KHGS). J Endocrinol Investig 29:313-319